This class was created by Brainscape user Taylor Kerrins. Visit their profile to learn more about the creator.
By:
Taylor Kerrins
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Decks in this class (33)
LSDs
gene disease association
22
cards
Peroxisomal
gene disease association
9
cards
Metals
gene disease
10
cards
GSDs
Type 0 gsd 1,
Type 1 von gierke gsd 2,
Type 2 pompe gsd 3
10
cards
CDGs
Pmm2 cdg cdg ia 1,
Mpi cdg cdg ib 2,
Pgm1 cdg 3
4
cards
Cholesterol
Smith limli opitz slos 1,
Desmosterolosis 2,
Lathosterolosis 3
11
cards
Purine and Pyrimidine
Lesch nyhan 1,
Adenine phosphoribosyltransferase...,
Adenosine deaminase ada deficiency 3
10
cards
Creatine
Agat deficiency arginine glycine ...,
Gamt deficiency guanidinoacetate ...,
Creatine transporter deficiency 3
3
cards
Amino Acidopathies
Phenylketonuria pku 1,
Tyrosinemia i 2,
Tyrosinemia ii 3
12
cards
Organic acidemias
Propionic acidemia 1,
Methylmalonic acidemia 2,
Isovaleric acidemia 3
9
cards
FAOD
Mcad deficiency 1,
Vlcad 2,
Lchad deficiency 3
10
cards
UCDs
Cps1 deficiency 1,
Nags deficiency 2,
Otc deficiency 3
6
cards
Skeletal Dysplasias
Achondroplasia 1,
Thanatophoric dysplasia 2,
Hypochondroplasia 3
14
cards
Bone Marrow Failure
Fanconi anemia 1,
Diamond blackfan anemia dba 2,
Shwachman diamond syndrome sds 3
6
cards
Mito
Melas 1,
Merrf 2,
Leigh syndrome 3
8
cards
Immunology
X linked agammaglobulinemia bruton 1,
Cvid 2,
Selective iga deficiency 3
22
cards
Heart-Hand Syndromes
Holt oram 1,
Thrombocytopenia absent radius ta...,
Fanconi anemia 3
5
cards
Ciliopathies
Bardet biedl syndrome bbs 1,
Alstrom syndrome 2,
Joubert syndrome 3
10
cards
Miscellaneous
Greig cephalopolysyndactyly 1,
Pallister hall syndrome 2,
Carpenter syndrome 3
31
cards
microdel/dup syndromes
Digeorge vcfs 1,
Williams syndrome 2,
Smith magenis syndrome 3
26
cards
craniosynostosis
Apert 1,
Crouzon 2,
Pfeiffer syndrome 3
3
cards
Triplet Repeats
Fragile x syndrome gene location ...,
Myotonic dystrophy type 1 dm1 gen...,
Myotonic dystrophy type 2 dm2 gen...
16
cards
Ectodermal Dysplasia
Hypohidrotic ectodermal dysplasia...,
Hidrotic ectodermal dysplasia clo...,
Ecc syndrome ectrodactyly cleft l...
5
cards
Gene and Drug metabolism
Cyp2c19 1,
Cyp2d6 2,
Cyp2c9 3
13
cards
Cancer Syndromes
Gene frequently amplified in high...,
T 8 14 2,
T 9 22 3
83
cards
Overgrowth Syndromes
Bws 1,
Sotos 2,
Weaver 3
8
cards
Cancer Treatment Drugs
Imatinib 1,
Trastuzumab 2,
Crizotinib 3
9
cards
Recurrent cyto abn in Heme malignancy
Aml cytogenetic rearrangements 1,
Myelodysplasic syndrome mds cytog...,
B all rearrangements 3
7
cards
Aneuploidy origin
Trisomy 21 origin 1,
Trisomy 18 origin 2,
Trisomy 16 origin 3
7
cards
RASopathies
Noonan syndrome 1,
Noonan w multiple lentigines 2,
Cardiofaciocutaneous syndrome cfc...
5
cards
Neurogenetics
Genes that cause early onset alzh...,
Genes associated w late onset alz...,
Gene associated with decreased ri...
7
cards
Teratogen
Toxoplasma gondii 1,
Syphilis 2,
Parvo b19 3
7
cards
prenatal screening tests
2nd trimester quad screen for t21 1,
2nd trimester quad screen for t18 2,
2nd trimester quad screen for t13 3
7
cards
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Genes
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